[CIS PIDD] [cis-pidd] CMCC with gof STAT1 mutation

[Bodo Grimbacher]

Hi Anders,

We do at the CCI in FreiburgŠ
But I am sure we are not the only ones in EuropeŠ

Best, Bodo
****************************************
Univ.-Prof. Dr. med. B. Grimbacher
 
Scientific-Director
CCI-Center for Chronic Immunodeficiency
UNIVERSITÄTSKLINIKUM FREIBURG
Tel.: 0761 270-77731  Fax: -77744
Engesserstraße 4, 79108 Freiburg
bodo.grimbacher at uniklinik-freiburg.de
www.uniklinik-freiburg.de/cci

Von:  Anders Fasth <anders at fasth.com>
Antworten an:  CIS-PIDD <cis-pidd at lyris.dundee.net>
Datum:  Wednesday 15 April 2015 22:11
An:  CIS-PIDD <cis-pidd at lyris.dundee.net>
Betreff:  [cis-pidd] CMCC with gof STAT1 mutation

Dear all,
I have in my care a 4.5 year old girl with all too typical CMCC with STAT1
mutation. CMCC, lungempyema with pneumococci, Breakthrough Candida
infections while on Diflucan. alopecia etc.

My questions to you is:
1. Do any of you have the experience to treat a child with ruxolitinib? If
so - dose, results, side effects, precautions?
2. Do you know who can look at phosphorylation of STAT1?. This as her
mutation in a not earlier described one, but affecting a highly conserved
aa. 

Thank you all in advance

Best

Anders




Anders Fasth, MD, PhD
Professor of Pediatric Immunology,
Dept of Pediatrics, University of Gothenburg
Address: The Queen Silvia Children¹s Hospital,
SE-416 85 Göteborg, Sweden
Tel +46-31-343 5220 (343 4000 switchboard)
Mobile +46-70-0852717 (work)
Mobile +46-70-687 5970 (private)
Fax +46-31-707 0694

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